Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966202C>G , CM000681.2:g.48966202C>G | GRCh38 |
| NC_000019.9:g.49469459C>G , CM000681.1:g.49469459C>G | GRCh37 |
| NC_000019.8:g.54161271C>G | NCBI36 |
| NG_008152.1:g.5894C>G | |
| NG_012923.1:g.32152G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.250-79C>G MANE Select | ENSP00000366525.2:n.250-79C>G | |
| ENST00000331825.10:c.250-79C>G | ENSP00000366525.2:n.250-79C>G | |
| ENST00000622577.2:c.250-79C>G | ENSP00000484043.1:n.250-79C>G | |
| NM_000146.3:c.250-79C>G | NP_000137.2:n.250-79C>G | |
| XM_024451447.1:c.760-79C>G | XP_024307215.1:n.760-79C>G | |
| NM_000146.4:c.250-79C>G MANE Select | NP_000137.2:n.250-79C>G |